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FOXL2 mutation screening in a large panel of POF patients and XX males
  1. E De Baere1,
  2. B Lemercier2,
  3. S Christin-Maitre3,
  4. D Durval4,
  5. L Messiaen1,
  6. M Fellous2,
  7. R Veitia2
  1. 1Department of Medical Genetics, Ghent University Hospital, B-9000 Ghent, Belgium
  2. 2Immunogénétique Humaine, Institut Pasteur, Université Denis Didérot, Paris, France
  3. 3Service d’ Endocrinologie EA 1533, Hôpital Saint-Antoine, 184 rue du Faubourg Saint-Antoine, 75571 Paris, France
  4. 4Hospital das Clinicas, Instituto da Crianca, Sao Paulo, Brazil
  1. Correspondence to:
 Dr R Veitia, Immunogénétique Humaine, Institut Pasteur,25 rue de Dr Roux, 75724 Paris, France;
 rveitia{at}pasteur.fr

https://doi.org/10.1136/jmg.39.8.e43

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    Premature ovarian failure (POF) is defined as amenorrhoea for more than six months associated with raised gonadotrophins before the age of 40 years. This condition affects 1% of women in the general population. Most cases of POF are idiopathic and presumed to be genetic. Many X linked abnormalities are associated with idiopathic POF, including monosomy X in Turner syndrome and deletions and translocations implicating a number of X loci in POF.1

    An autosomal dominant condition which is associated with POF is the blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) (MIM 110100), linked to human chromosome 3q23. In BPES type I, a complex eyelid malformation is associated with POF, while in BPES type II the eyelid defect occurs as an isolated entity.2 The features of POF in BPES are similar to those observed in non-syndromic POF. However, the latter has not so far been linked to 3q23. Recently, Crisponi et al3 have shown that mutations in the forkhead transcription factor gene FOXL2 cause both BPES types I and II. A genotype-phenotype correlation was shown for both types of BPES; mutations predicted to result in a truncated protein lead to BPES type I, while mutations predicted to result in an extended protein cause BPES type II.3,4FOXL2 is the first human autosomal gene of which dominant mutations have been shown to interfere with ovarian maintenance and POF. Expression studies have localised FOXL2 to follicular cells in the mouse ovary, being consistent with its presumed role in follicular development and maintenance.3 Considering the phenotypic spectrum of FOXL2 mutations in BPES (especially type I), it was logical to expect that they might also cause other phenotypes, including non-syndromic POF.3,5 Moreover, the causal gene is a member of the forkhead transcription factor gene family and mutations in members …

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